Cargando…

Multi-OMICS analyses unveil STAT1 as a potential modifier gene in mevalonate kinase deficiency

OBJECTIVES: The objective of the present study was to explain why two siblings carrying both the same homozygous pathogenic mutation for the autoinflammatory disease hyper IgD syndrome, show opposite phenotypes, that is, the first being asymptomatic, the second presenting all classical characteristi...

Descripción completa

Detalles Bibliográficos
Autores principales:	Carapito, Raphael, Carapito, Christine, Morlon, Aurore, Paul, Nicodème, Vaca Jacome, Alvaro Sebastian, Alsaleh, Ghada, Rolli, Véronique, Tahar, Ouria, Aouadi, Ismail, Rompais, Magali, Delalande, François, Pichot, Angélique, Georgel, Philippe, Messer, Laurent, Sibilia, Jean, Cianferani, Sarah, Van Dorsselaer, Alain, Bahram, Seiamak
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2018
Materias:	Basic and Translational Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6225799/ https://www.ncbi.nlm.nih.gov/pubmed/30030262 http://dx.doi.org/10.1136/annrheumdis-2018-213524

Ejemplares similares

Homozygosity for the V377I mutation in mevalonate kinase causes distinct clinical phenotypes in two sibs with hyperimmunoglobulinaemia D and periodic fever syndrome (HIDS)
por: Messer, Laurent, et al.
Publicado: (2016)

Measuring the transcriptome-wide effects of aging on murine adipocytes using RNAseq
por: De Cauwer, Aurore, et al.
Publicado: (2023)

A mouse model of MSU-induced acute inflammation in vivo suggests imiquimod-dependent targeting of Il-1β as relevant therapy for gout patients
por: Mariotte, Alexandre, et al.
Publicado: (2020)

Temporal multiomic modeling reveals a B-cell receptor proliferative program in chronic lymphocytic leukemia
por: Schleiss, Cedric, et al.
Publicado: (2021)

Multi-omics dataset to decipher the complexity of drug resistance in diffuse large B-cell lymphoma
por: Fornecker, Luc-Matthieu, et al.
Publicado: (2019)

Dicer1 deficient mice exhibit premature aging and metabolic perturbations in adipocytes
por: De Cauwer, Aurore, et al.
Publicado: (2022)

Natural Killer Group 2, Member D/NKG2D Ligands in Hematopoietic Cell Transplantation
por: Carapito, Raphael, et al.
Publicado: (2017)

Dermatomyositis flare on imiquimod therapy highlights a crucial role of aberrant TLR7 signalling
por: Meyer, Alain, et al.
Publicado: (2016)

selectBoost: a general algorithm to enhance the performance of variable selection methods
por: Bertrand, Frédéric, et al.
Publicado: (2020)

The miR-17 ∼ 92 Cluster: A Key Player in the Control of Inflammation during Rheumatoid Arthritis
por: Philippe, Lucas, et al.
Publicado: (2013)

DICER1: A Key Player in Rheumatoid Arthritis, at the Crossroads of Cellular Stress, Innate Immunity, and Chronic Inflammation in Aging
por: De Cauwer, Aurore, et al.
Publicado: (2018)

Contrasting role of NLRP12 in autoinflammation: evidence from a case report and mouse models
por: Lévy, Dan, et al.
Publicado: (2021)

MetAP1 and MetAP2 drive cell selectivity for a potent anti-cancer agent in synergy, by controlling glutathione redox state
por: Frottin, Frédéric, et al.
Publicado: (2016)

Author Correction: Impairing flow-mediated endothelial remodeling reduces extravasation of tumor cells
por: Follain, Gautier, et al.
Publicado: (2021)

Impairing flow-mediated endothelial remodeling reduces extravasation of tumor cells
por: Follain, Gautier, et al.
Publicado: (2021)

Circulating Human Eosinophils Share a Similar Transcriptional Profile in Asthma and Other Hypereosinophilic Disorders
por: Barnig, Cindy, et al.
Publicado: (2015)

An unusually high substitution rate in transplant-associated BK polyomavirus in vivo is further concentrated in HLA-C-bound viral peptides
por: Domingo-Calap, Pilar, et al.
Publicado: (2018)

Extended investigation of tube-gel sample preparation: a versatile and simple choice for high throughput quantitative proteomics
por: Muller, Leslie, et al.
Publicado: (2018)

MiR-30a-3p Negatively Regulates BAFF Synthesis in Systemic Sclerosis and Rheumatoid Arthritis Fibroblasts
por: Alsaleh, Ghada, et al.
Publicado: (2014)

B lymphocytes and B-cell activating factor promote collagen and profibrotic markers expression by dermal fibroblasts in systemic sclerosis
por: François, Antoine, et al.
Publicado: (2013)

Deregulation of Type I IFN-Dependent Genes Correlates with Increased Susceptibility to Cytomegalovirus Acute Infection of Dicer Mutant Mice
por: Ostermann, Eleonore, et al.
Publicado: (2012)

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation
por: Castro, Carla Noemi, et al.
Publicado: (2020)

The Heterogeneous Allelic Repertoire of Human Toll-Like Receptor (TLR) Genes
por: Georgel, Philippe, et al.
Publicado: (2009)

Detection of Prion Protein in Urine-Derived Injectable Fertility Products by a Targeted Proteomic Approach
por: Van Dorsselaer, Alain, et al.
Publicado: (2011)

Update on Fc-Mediated Antibody Functions Against HIV-1 Beyond Neutralization
por: Su, Bin, et al.
Publicado: (2019)

Rab7-harboring vesicles are carriers of the transferrin receptor through the biosynthetic secretory pathway
por: Deffieu, Maika S., et al.
Publicado: (2021)

Spatio-Temporal Detection of the Thiomonas Population and the Thiomonas Arsenite Oxidase Involved in Natural Arsenite Attenuation Processes in the Carnoulès Acid Mine Drainage
por: Hovasse, Agnès, et al.
Publicado: (2016)

Genomic profiling of a metastatic anaplastic melanocytic neuroectodermal tumor arising from a mature thymic teratoma as part of a mediastinal germ cell tumor
por: Mayeur, Sylvain, et al.
Publicado: (2023)

Proteomics profiling reveals novel proteins and functions of the plant stigma exudate
por: Rejón, Juan David, et al.
Publicado: (2013)

Increased Viral Dissemination in the Brain and Lethality in MCMV-Infected, Dicer-Deficient Neonates
por: Ostermann, Eleonore, et al.
Publicado: (2015)

A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report
por: Jacob, Arthur, et al.
Publicado: (2020)

Atypical focal segmental glomerulosclerosis associated with a new PODXL nonsense variant
por: Marx, David, et al.
Publicado: (2021)

BCR-associated factors driving chronic lymphocytic leukemia cells proliferation ex vivo
por: Schleiss, Cédric, et al.
Publicado: (2019)

Comparative Expression Study of the Endo–G Protein Coupled Receptor (GPCR) Repertoire in Human Glioblastoma Cancer Stem-like Cells, U87-MG Cells and Non Malignant Cells of Neural Origin Unveils New Potential Therapeutic Targets
por: Fève, Marie, et al.
Publicado: (2014)

Mapping rRNA 2’-O-methylations and identification of C/D snoRNAs in Arabidopsis thaliana plants
por: Azevedo-Favory, J., et al.
Publicado: (2021)

The MHC class I MICA gene is a histocompatibility antigen in kidney transplantation
por: Carapito, Raphael, et al.
Publicado: (2022)

HLA*LA—HLA typing from linearly projected graph alignments
por: Dilthey, Alexander T, et al.
Publicado: (2019)

In Vivo Expression Pattern of MICA and MICB and Its Relevance to Auto-Immunity and Cancer
por: Schrambach, Stéphanie, et al.
Publicado: (2007)

Aryl hydrocarbon receptor (Ahr)‐dependent Il‐22 expression by type 3 innate lymphoid cells control of acute joint inflammation
por: Nehmar, Ramzi, et al.
Publicado: (2021)

High-Throughput MICA/B Genotyping of Over Two Million Samples: Workflow and Allele Frequencies
por: Klussmeier, Anja, et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_kl04jkpqimaudqped3tods8t4p